Christopher J. Penkett
Cambridge, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 27 publications
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Journal: American journal of human genetics
Published: March 13, 2023
SARS-CoV-2 Susceptibility and ACE2 Gene Variations Within Diverse Ethnic Backgrounds.
Journal: Frontiers in genetics
Published: March 02, 2022
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
Journal: The New England journal of medicine
Published: November 10, 2021
Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension.
Journal: Circulation. Genomic and precision medicine
Published: December 15, 2020
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Journal: Nature
Published: July 18, 2020
Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes.
Journal: European journal of human genetics : EJHG
Published: March 30, 2020
The Polygenic and Monogenic Basis of Blood Traits and Diseases.
Journal: Cell
Published: January 18, 2020
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.
Journal: Blood
Published: December 16, 2019
Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy.
Journal: Journal of the American Society of Nephrology : JASN
Published: April 30, 2019
Last Updated: 09/26/2026